Results 91 to 100 of about 19,693 (207)

Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons

open access: yesMolecular Genetics and Metabolism Reports
The first cohort of early-treated adults with phenylketonuria (PKU) is reaching middle-age and moving towards old age. We do not know if and how the effects of an aging brain may interact with the effect of PKU.
Lucie Thomas   +5 more
doaj   +1 more source

Nutritional approach to PKU diet

open access: yes, 1995
Phenylketonuria (PKU) represents an ever changing challenge for the nutritionist. The avoidance of unpermitted foods in infants leads to the exclusion of nutrients naturally occurring only in whole animal foods and recently identified as essential or ...
Rottoli A   +5 more
core  

Restricted eating behavior in children with PKU and HPA [PDF]

open access: yes, 2012
Thesis (Master's)--University of Washington, 2012Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are two genetic disorders that affect the metabolism of the amino acid phenylalanine (Phe), leading to increased serum Phe concentrations, and possible
Bailey, Sarah
core  

Novel PKU mutation on haplotype 2 in French-Canadians.

open access: yes, 1989
We analyzed DNA from nine French-Canadian probands from eastern Quebec province; all had hyperphenylalaninemia (phenylketonuria [PKU] or non-PKU forms) caused by mutations at the phenylalanine hydroxylase locus.
Laberge, C   +4 more
core   +1 more source

Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine

open access: yesMolecules
Background: Phenylketonuria (PKU) is a rare genetic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, resulting in a deficiency of the enzyme responsible for metabolizing phenylalanine (Phe) and its accumulation.
Reem AlMalki   +6 more
doaj   +1 more source

A New Layered Silicogermanate PKU-23 and Its Transformation to a Zeolite with Three-Dimensional Channels

open access: yes, 2019
PKU-23, a new layered silicogermanate with eight-ring pores in the crystalline sheets, was hydrothermally synthesized under fluoride conditions by using 4-dimethylaminopyridine (DMAP) or 1-benzyl-4-dimethylaminopyridinium hydroxide (DMAP-Bn) as organic ...
Attia Firdous (6476093)   +6 more
core   +1 more source

Sibling-controlled study of the impact of dietary therapy on the gut microbiota in children with phenylketonuria

open access: yesFrontiers in Nutrition
BackgroundPhenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase activity. Due to intolerance to the dietary intake of phenylalanine (Phe), the patients need to take a low-protein diet ...
Natsuki Ohmi-Shimizu   +14 more
doaj   +1 more source

A Teacher's Guide to PKU [PDF]

open access: yes, 1985
Phenylketonuria (or PKU) is an inherited disorder of protein metabolism. Children with PKU do not have a functioning enzyme to metabolize or break down amino acid call phenylalanine (PHE for short), which is found in all food proteins.
Nardella, Maria, Kaufman, Mimi
core   +1 more source

New Parents' Guide to PKU.

open access: yes
The purpose of this booklet is to help to familiarize you, as new parents of a child with phenylketonuria (called PKU), with PKU and its treatment. It will also help to orient you to the PKU clinic and the people there who will help you to manage your
Trahms, Cristine M.   +3 more
core  

Perencanaan Strategi Sistem Informasi Pada Rumah Sakit Islam PKU Muhammadiyah Kabupaten Tegal

open access: yesJOINS (Journal of Information System), 2017
Rumah Sakit Islam PKU Muhammadiyah Kabupaten Tegal merupakan rumah sakit Islam Swasta di Kabupaten Tegal yang bergerak dibidang kesehatan. Dalam menjalankan proses pelayanan kesehatan kepada pasien, Rumah Sakit Islam PKU Muhammadiyah Kabupaten Tegal ...
Aufa Nisrina Aulia, Heru Pramono Hadi
doaj  

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